G16R (p.Gly16Arg) variant of SDHD (O14521)
G16R (p.Gly16Arg) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Carney-Stratakis syndrome; Cowden syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- rs1555186687
- ClinGen CA382616749
- ClinVar RCV002526128
- ClinVar RCV004722893
- Uncertain significance
- Pheochromocytoma; Carney-Stratakis syndrome; Cowden syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.51
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Pheochromocytoma; Carney-Stratakis syndrome; Cowden syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)